A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982547



Internal ID55727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51482242..51483842hg38UCSC Ensembl
chr6:51347040..51348640hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466083
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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